Submissions for variant NM_016938.5(EFEMP2):c.368-11G>A

gnomAD frequency: 0.00272  dbSNP: rs181514768

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000155539	SCV000205238	likely benign	not specified	2013-02-21	criteria provided, single submitter	clinical testing	368-11G>A in intron 4 of EFEMP2: This variant is not expected to have clinical s ignificance because it has been identified in 0.5% (40/8592) of European America n chromosomes from a broad population by the NHLBI Exome Sequencing Project (htt p://evs.gs.washington.edu/EVS; dbSNP rs181514768).
Illumina Laboratory Services, Illumina	RCV000320707	SCV000373182	likely benign	Cutis laxa, autosomal recessive, type 1B	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
GeneDx	RCV001711315	SCV000531904	likely benign	not provided	2021-05-27	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000320707	SCV001477806	likely benign	Cutis laxa, autosomal recessive, type 1B	2023-11-11	criteria provided, single submitter	clinical testing
Invitae	RCV000320707	SCV002427693	benign	Cutis laxa, autosomal recessive, type 1B	2024-01-31	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000155539	SCV004029165	benign	not specified	2023-07-21	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003927514	SCV004743660	likely benign	EFEMP2-related condition	2021-04-25	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).